Canonical Allele Identifier: CA1172296016

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65428659C>A , CM000663.2:g.65428659C>A GRCh38
NC_000001.10:g.65894342C>A , CM000663.1:g.65894342C>A GRCh37
NC_000001.9:g.65666930C>A NCBI36
NG_015831.2:g.13095C>A , LRG_283:g.13095C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.-21+3281C>A (LEPR) MANE Select ENSP00000330393.7:n.-21+3281C>A
ENST00000371065.9:c.93-1203C>A (LEPROT) MANE Select ENSP00000360104.4:n.93-1203C>A
ENST00000349533.10:c.-21+3281C>A (LEPR) ENSP00000330393.6:n.-21+3281C>A
ENST00000371059.7:c.-21+3281C>A (LEPR) ENSP00000360098.3:n.-21+3281C>A
ENST00000371060.7:c.-21+3281C>A (LEPR) ENSP00000360099.3:n.-21+3281C>A
ENST00000371065.8:c.93-1203C>A (LEPROT) ENSP00000360104.4:n.93-1203C>A
ENST00000406510.7:c.-641+3281C>A (LEPR) ENSP00000384025.3:n.-641+3281C>A
ENST00000475108.5:n.231-3144C>A (LEPROT)
ENST00000484243.1:n.108-1203C>A (LEPROT)
ENST00000488747.5:n.110-1272C>A (LEPROT)
ENST00000613538.1:c.120-1203C>A (LEPROT) ENSP00000483521.1:n.120-1203C>A
NM_001003679.3:c.-21+3281C>A , LRG_283t1:c.-21+3281C>A (LEPR) NP_001003679.1:n.-21+3281C>A
NM_001003680.3:c.-21+3281C>A , LRG_283t2:c.-21+3281C>A (LEPR) NP_001003680.1:n.-21+3281C>A
NM_001198681.1:c.120-1203C>A (LEPROT) NP_001185610.1:n.120-1203C>A
NM_002303.5:c.-21+3281C>A , LRG_283t3:c.-21+3281C>A (LEPR) NP_002294.2:n.-21+3281C>A
NM_017526.4:c.93-1203C>A (LEPROT) NP_059996.1:n.93-1203C>A
NM_017526.5:c.93-1203C>A (LEPROT) MANE Select NP_059996.1:n.93-1203C>A
NM_002303.6:c.-21+3281C>A (LEPR) MANE Select NP_002294.2:n.-21+3281C>A
NM_001198681.2:c.120-1203C>A (LEPROT) NP_001185610.1:n.120-1203C>A